NM_001177316.2(SLC34A3):c.575C>T (p.Ser192Leu)Pathogenic
Autosomal recessive hypophosphatemic bone disease|not provided|SLC34A3-related disorder|Hypophosphataemia or rickets
β
β
ββ2026β Residue 192
NM_001177316.2(SLC34A3):c.925+20_926-48delPathogenic
Autosomal recessive hypophosphatemic bone disease|not provided
β
β
ββ2026
NM_001177316.2(SLC34A3):c.449-1G>CLikely pathogenic
not provided|Autosomal recessive hypophosphatemic bone disease
β
β
ββ2026
NM_001177316.2(SLC34A3):c.1248_1249del (p.Leu417fs)Pathogenic
not provided|Autosomal recessive hypophosphatemic bone disease|SLC34A3-related disorder
β
β
ββ2025β Residue 417
NM_001177316.2(SLC34A3):c.448+1G>APathogenic
not provided|Autosomal recessive hypophosphatemic bone disease
β
β
ββ2025
NM_001177316.2(SLC34A3):c.734dup (p.Leu246fs)Pathogenic
not provided|Autosomal recessive hypophosphatemic bone disease
β
β
ββ2025β Residue 246
NM_001177316.2(SLC34A3):c.586G>A (p.Gly196Arg)Pathogenic
Autosomal recessive hypophosphatemic bone disease|not provided
β
β
ββ2025β Residue 196
NM_001177316.2(SLC34A3):c.304+2T>CPathogenic
Autosomal recessive hypophosphatemic bone disease|not provided
β
β
ββ2025
NM_001177316.2(SLC34A3):c.1402C>T (p.Arg468Trp)Pathogenic
Autosomal recessive hypophosphatemic bone disease|not provided|SLC34A3-related disorder
β
β
ββ2025β Residue 468
NM_001177316.2(SLC34A3):c.1561dup (p.Leu521fs)Pathogenic
Autosomal recessive hypophosphatemic bone disease|not provided|SLC34A3-related disorder
β
β
ββ2025β Residue 521
NM_001177316.2(SLC34A3):c.1242C>A (p.Tyr414Ter)Pathogenic
Autosomal recessive hypophosphatemic bone disease|not provided
β
β
ββ2025β Residue 414
NM_001177316.2(SLC34A3):c.3G>A (p.Met1Ile)Pathogenic
not provided|Autosomal recessive hypophosphatemic bone disease|SLC34A3-related disorder
β
β
ββ2025β Residue 1
NM_001177316.2(SLC34A3):c.711dup (p.Ile238fs)Pathogenic
not provided|Inborn genetic diseases
β
β
ββ2025β Residue 238
NM_001177316.2(SLC34A3):c.846+1G>ALikely pathogenic
not provided|Autosomal recessive hypophosphatemic bone disease
β
β
ββ2025
NM_001177316.2(SLC34A3):c.1623G>A (p.Trp541Ter)Pathogenic
not provided|Autosomal recessive hypophosphatemic bone disease
β
β
ββ2025β Residue 541
NM_001177316.2(SLC34A3):c.1247del (p.Leu416fs)Pathogenic
Autosomal recessive hypophosphatemic bone disease|not provided
β
β
ββ2025β Residue 416
NM_001177316.2(SLC34A3):c.1046_1047del (p.Val349fs)Pathogenic
not provided|Autosomal recessive hypophosphatemic bone disease
β
β
ββ2025β Residue 349
NM_001177316.2(SLC34A3):c.1094-63_1115delLikely pathogenic
Autosomal recessive hypophosphatemic bone disease|not provided
β
β
ββ2025
NM_001177316.2(SLC34A3):c.2T>C (p.Met1Thr)Pathogenic
not provided|Autosomal recessive hypophosphatemic bone disease
β
β
ββ2025β Residue 1
NM_001177316.2(SLC34A3):c.1093+2T>CPathogenic
not provided|Autosomal recessive hypophosphatemic bone disease
β
β
ββ2025